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Identifying phenotypes plays an important role in furthering our understanding of disease biology through practical applications within healthcare and the life sciences. The challenge of dealing with the complexities and noise within…

Applications · Statistics 2023-04-28 Andre Vauvelle , Hamish Tomlinson , Aaron Sim , Spiros Denaxas

Ontology-based approaches for predicting gene-disease associations include the more classical semantic similarity methods and more recently knowledge graph embeddings. While semantic similarity is typically restricted to hierarchical…

Machine Learning · Computer Science 2021-06-01 Susana Nunes , Rita T. Sousa , Catia Pesquita

Investigating the genetic architecture of complex diseases is challenging due to the multifactorial and interactive landscape of genomic and environmental influences. Although genome-wide association studies (GWAS) have identified thousands…

Genomics · Quantitative Biology 2025-02-12 Burak Yelmen , Maris Alver , Merve Nur Güler , Estonian Biobank Research Team , Flora Jay , Lili Milani

Genome-wide association studies (GWAS) offer new opportunities to identify genetic risk factors for Alzheimer's disease (AD). Recently, collaborative efforts across different institutions emerged that enhance the power of many existing…

Machine Learning · Computer Science 2016-08-26 Qingyang Li , Tao Yang , Liang Zhan , Derrek Paul Hibar , Neda Jahanshad , Yalin Wang , Jieping Ye , Paul M. Thompson , Jie Wang

Knowledge Graphs (KGs) represent real-world noisy raw information in a structured form, capturing relationships between entities. However, for dynamic real-world applications such as social networks, recommender systems, computational…

Artificial Intelligence · Computer Science 2020-03-26 Amit Sheth , Swati Padhee , Amelie Gyrard

Knowledge based dialogue systems have attracted increasing research interest in diverse applications. However, for disease diagnosis, the widely used knowledge graph is hard to represent the symptom-symptom relations and symptom-disease…

Computation and Language · Computer Science 2020-12-29 Xinyan Zhao , Liangwei Chen , Huanhuan Chen

Many complex disease syndromes such as asthma consist of a large number of highly related, rather than independent, clinical phenotypes, raising a new technical challenge in identifying genetic variations associated simultaneously with…

Machine Learning · Statistics 2008-11-16 Seyoung Kim , Kyung-Ah Sohn , Eric P. Xing

Understanding mechanistic relationships among genes and their impacts on biological pathways is essential for elucidating disease mechanisms and advancing precision medicine. Despite the availability of extensive molecular interaction and…

Molecular Networks · Quantitative Biology 2026-03-24 Fujian Jia , Jiwen Gu , Cheng Lu , Dezhi Zhao , Mengjiang Huang , Yuanzhi Lu , Xin Liu , Kang Liu

Knowledge-intensive tasks pose a significant challenge for Machine Learning (ML) techniques. Commonly adopted methods, such as Large Language Models (LLMs), often exhibit limitations when applied to such tasks. Nevertheless, there have been…

Machine Learning · Computer Science 2024-05-20 Albert Sawczyn , Jakub Binkowski , Piotr Bielak , Tomasz Kajdanowicz

We show that a normalized alignment free similarity measure, called D2z, can be used to detect potential regulatory relations for gene sets when little is known about the regulatory elements involved. One scenario where such gene sets arise…

Genomics · Quantitative Biology 2013-04-05 Miriam Ruth Kantorovitz , David Tcheng , Michael I. Lerman , Eric Jakobsson

Knowledge Graphs (KGs) have made a qualitative leap and effected a real revolution in knowledge representation. This is leveraged by the underlying structure of the KG which underpins a better comprehension, reasoning and interpretation of…

Databases · Computer Science 2021-03-04 Bilal Abu-Salih

Personalized messaging plays an essential role in improving communication in areas such as healthcare, education, and professional engagement. This paper introduces a framework that uses the Knowledge Graph (KG) to dynamically rephrase…

Artificial Intelligence · Computer Science 2025-03-19 Rajeev Kumar , Harishankar Kumar , Kumari Shalini

Recent advances in research have demonstrated the effectiveness of knowledge graphs (KG) in providing valuable external knowledge to improve recommendation systems (RS). A knowledge graph is capable of encoding high-order relations that…

Information Retrieval · Computer Science 2020-04-02 Yang Gao , Yi-Fan Li , Yu Lin , Hang Gao , Latifur Khan

Knowledge Graphs (KGs) have gained considerable attention recently from both academia and industry. In fact, incorporating graph technology and the copious of various graph datasets have led the research community to build sophisticated…

Artificial Intelligence · Computer Science 2020-06-03 Bilal Abu-Salih , Marwan Al-Tawil , Ibrahim Aljarah , Hossam Faris , Pornpit Wongthongtham

Knowledge Graphs (KGs) are a powerful representation of linked data, offering flexibility, semantic richness, and support for knowledge enrichment and reasoning. They help data owners organize and exploit heterogeneous data to provide…

Cryptography and Security · Computer Science 2026-05-20 Yasmine Hayder

In Knowledge Graphs (KGs), where the schema of the data is usually defined by particular ontologies, reasoning is a necessity to perform a range of tasks, such as retrieval of information, question answering, and the derivation of new…

Artificial Intelligence · Computer Science 2025-02-27 Anastasios Nentidis , Charilaos Akasiadis , Angelos Charalambidis , Alexander Artikis

Knowledge Graph (KG) plays a crucial role in Medical Report Generation (MRG) because it reveals the relations among diseases and thus can be utilized to guide the generation process. However, constructing a comprehensive KG is…

Computer Vision and Pattern Recognition · Computer Science 2023-07-25 Yixin Wang , Zihao Lin , Haoyu Dong

In genome-wide association studies (GWASs), there is an increasing need for detecting the associations between a genetic variant and multiple traits. In studies of complex diseases, it is common to measure several potentially correlated…

Methodology · Statistics 2021-02-04 Qiaolan Deng , Chi Song

Identifying mutations of SARS-CoV-2 strains associated with their phenotypic changes is critical for pandemic prediction and prevention. We compared an explainable convolutional neural network (CNN) approach and the traditional genome-wide…

Genomics · Quantitative Biology 2025-01-03 Parisa Hatami , Richard Annan , Luis Urias Miranda , Jane Gorman , Mengjun Xie , Letu Qingge , Hong Qin

Recent improvements in KG-to-text generation are due to additional auxiliary pre-training tasks designed to give the fine-tune task a boost in performance. These tasks require extensive computational resources while only suggesting marginal…

Computation and Language · Computer Science 2023-05-19 Anthony Colas , Mehrdad Alvandipour , Daisy Zhe Wang